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BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients

Alhourani, Eyad; Othman, Moneeb A. K.; Melo, Joana Barbosa; Carreira, Isabel M.; Grygalewicz, Beata; Vujić, Dragana; Zecević, Zeljko; Joksić, Gordana

Deletions within chromosome 11q22-23, are considered among the most common chromosomal aberrations in chronic lymphocytic leukemia (CLL), and are associated with a poor outcome. In addition to the ataxia telangiectasia mutated (ATM) gene, the baculoviral IAP repeat-containing 3 (BIRC3) gene is also located in the region. BIRC3 encodes a negative regulator of the non-canonical nuclear factor κ-light-chain-enhanc...


Isochromosome 17q in Chronic Lymphocytic Leukemia

Alhourani, Eyad; Rincic, Martina; Melo, Joana B.; Carreira, Isabel M.; Glaser, Anita; Pohle, Beate; Schlie, Cordula; Liehr, Thomas

In chronic lymphocytic leukemia (CLL), presence of acquired cytogenetic abnormalities may help to estimate prognosis. However, deletion of TP53 gene, which is associated with an aggressive course of the disease and poor prognosis along with a lack of response to treatment, is one of the alterations which may escape cytogenetic diagnoses in CLL. Thus, other techniques have emerged such as interphase fluorescence...


High rates of submicroscopic aberrations in karyotypically normal acute lymphob...

Othman, Moneeb A. K.; Melo, Joana B.; Carreira, Isabel M.; Rincic, Martina; Glaser, Anita; Grygalewicz, Beata; Gruhn, Bernd; Wilhelm, Kathleen

Background: Acute lymphoblastic leukemia (ALL) is not a single uniform disease. It consists of several subgroups with different cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Banding cytogenetics plays a pivotal role in the detection of recurrent chromosomal rearrangements and is the starting point of genetic analysis in ALL, still. Nowadays, molecular (cyto)genetic tools pr...


A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Dele...

Othman, Moneeb A. K.; Rincic, Martina; Melo, Joana B.; Carreira, Isabel M.; Alhourani, Eyad; Hunstig, Friederike; Glaser, Anita; Liehr, Thomas

Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multi...


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